Biochemistry Reviewer
Metabolic Disorders
For Dentistry
CARBOHYDRATE METABOLISM-RELATED DISORDERS
GLYCOGEN STORAGE DISEASES (GSD)
Caused by enzyme deficiencies involved in glycogen synthesis or breakdown, affecting liver or
muscles. May cause hypoglycemia or abnormal glycogen accumulation.
GSD Type I: Von Gierke’s Disease
Deficient enzyme: glucose-6-phosphatase
Symptoms before 1 year: severe hypoglycemia, lactic acidosis, hepatomegaly
Later complications: renomegaly, renal insufficiency, platelet dysfunction, anemia
PYRUVATE DEHYDROGENASE DEFICIENCY
Leads to elevated pyruvate and lactic acid
Symptoms: lactic acidosis, cerebral cystic lesions, psychomotor retardation
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
X-linked defect common in blacks
Causes hemolysis after oxidant drug intake or illness
Reduces RBC membrane integrity, shortening RBC lifespan
GALACTOSEMIA
Inherited enzyme deficiencies converting galactose to glucose
Symptoms: hepatic and renal dysfunction, cataracts, premature ovarian failure
Diagnosis: enzyme analysis of RBCs
Treatment: dietary elimination of galactose
GLUCOKINASE DEFICIENCY (MODY)
Autosomal dominant mutation disrupting insulin production
Known as monogenic diabetes, distinct from Types 1 and 2 diabetes
TRIOSE PHOSPHATE ISOMERASE DEFICIENCY
Severe autosomal recessive glycolytic disorder
Characterized by hemolytic anemia, infections, neurological dysfunction
1
Metabolic Disorders
For Dentistry
CARBOHYDRATE METABOLISM-RELATED DISORDERS
GLYCOGEN STORAGE DISEASES (GSD)
Caused by enzyme deficiencies involved in glycogen synthesis or breakdown, affecting liver or
muscles. May cause hypoglycemia or abnormal glycogen accumulation.
GSD Type I: Von Gierke’s Disease
Deficient enzyme: glucose-6-phosphatase
Symptoms before 1 year: severe hypoglycemia, lactic acidosis, hepatomegaly
Later complications: renomegaly, renal insufficiency, platelet dysfunction, anemia
PYRUVATE DEHYDROGENASE DEFICIENCY
Leads to elevated pyruvate and lactic acid
Symptoms: lactic acidosis, cerebral cystic lesions, psychomotor retardation
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
X-linked defect common in blacks
Causes hemolysis after oxidant drug intake or illness
Reduces RBC membrane integrity, shortening RBC lifespan
GALACTOSEMIA
Inherited enzyme deficiencies converting galactose to glucose
Symptoms: hepatic and renal dysfunction, cataracts, premature ovarian failure
Diagnosis: enzyme analysis of RBCs
Treatment: dietary elimination of galactose
GLUCOKINASE DEFICIENCY (MODY)
Autosomal dominant mutation disrupting insulin production
Known as monogenic diabetes, distinct from Types 1 and 2 diabetes
TRIOSE PHOSPHATE ISOMERASE DEFICIENCY
Severe autosomal recessive glycolytic disorder
Characterized by hemolytic anemia, infections, neurological dysfunction
1
